Canonical Allele Identifier: CA392212542

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44564593G>A , CM000677.2:g.44564593G>A	GRCh38
NC_000015.9:g.44856791G>A , CM000677.1:g.44856791G>A	GRCh37
NC_000015.8:g.42644083G>A	NCBI36
NG_008885.1:g.104086C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.7105C>T MANE Select	NP_079413.3:p.Gln2369Ter
ENST00000261866.12:c.7105C>T MANE Select	ENSP00000261866.7:p.Gln2369Ter
NM_001160227.1:c.6766C>T	NP_001153699.1:p.Gln2256Ter
NM_001160227.2:c.6766C>T	NP_001153699.1:p.Gln2256Ter
NM_025137.3:c.7105C>T	NP_079413.3:p.Gln2369Ter
ENST00000261866.11:c.7105C>T	ENSP00000261866.7:p.Gln2369Ter
ENST00000427534.6:c.6755-1292C>T	ENSP00000396110.2:n.6755-1292C>T
ENST00000535302.6:c.6766C>T	ENSP00000445278.2:p.Gln2256Ter
ENST00000558138.2:c.796C>T	ENSP00000453314.2:p.Gln266Ter
ENST00000559511.5:c.1476C>T
ENST00000559511.6:c.6628C>T	ENSP00000453246.2:p.Gln2210Ter
ENST00000560299.1:n.397C>T
ENST00000682065.1:c.6961C>T	ENSP00000507025.1:p.Gln2321Ter
ENST00000682460.1:c.*3362C>T	ENSP00000508334.1:n.*3362C>T
ENST00000682495.1:c.*3597C>T	ENSP00000507166.1:n.*3597C>T
ENST00000682669.1:c.6904C>T	ENSP00000507782.1:p.Gln2302Ter
ENST00000683186.1:c.*3868C>T	ENSP00000507268.1:n.*3868C>T
ENST00000683496.1:c.*747C>T	ENSP00000506968.1:n.*747C>T
ENST00000683734.1:c.*1055C>T	ENSP00000508319.1:n.*1055C>T
ENST00000683753.1:n.6151C>T
ENST00000684038.1:c.*3525C>T	ENSP00000507141.1:n.*3525C>T
ENST00000684235.1:c.7105C>T	ENSP00000508295.1:p.Gln2369Ter
XM_005254695.3:c.6847C>T	XP_005254752.1:p.Gln2283Ter
XM_006720700.1:c.6961C>T	XP_006720763.1:p.Gln2321Ter
XM_017022634.1:c.6997C>T	XP_016878123.1:p.Gln2333Ter
XM_017022636.1:c.3982C>T	XP_016878125.1:p.Gln1328Ter